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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome
Circulation: Cardiovascular Genetics, Volume 6, No. 4, Year 2013
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Description
Background-Long-QT syndrome (LQTS) is characterized by such striking clinical heterogeneity that, even among family members carrying the same mutation, clinical outcome can range between sudden death and no symptoms. We investigated the role of genetic variants as modifiers of risk for cardiac events in patients with LQTS. Methods and Results-In a matched case-control study including 112 patient duos with LQTS from France, Italy, and Japan, 25 polymorphisms were genotyped based on either their association with QTc duration in healthy populations or on their role in adrenergic responses. The duos were composed of 2 relatives harboring the same heterozygous KCNQ1 or KCNH2 mutation: 1 with cardiac events and 1 asymptomatic and untreated. The findings were then validated in 2 independent founder populations totaling 174 symptomatic and 162 asymptomatic patients with LQTS, and a metaanalysis was performed. The KCNQ1 rs2074238 T-allele was significantly associated with a decreased risk of symptoms 0.34 (0.19-0.61; P<0.0002) and with shorter QTc (P<0.0001) in the combined discovery and replication cohorts. Conclusions-We provide evidence that the KCNQ1 rs2074238 polymorphism is an independent risk modifier with the minor T-allele conferring protection against cardiac events in patients with LQTS. This finding is a step toward a novel approach for risk stratification in patients with LQTS. © 2013 American Heart Association, Inc.
Authors & Co-Authors
Duchatelet, Sabine
France, Paris
Sorbonne Université
CROTTI, L.
Italy, Pavia
Università Degli Studi Di Pavia
Italy, Pavia
Fondazione Irccs Policlinico San Matteo
Germany, Oberschleissheim
Helmholtz Center Munich German Research Center for Environmental Health
Peat, Rachel A.
France, Paris
Sorbonne Université
Denjoy, Isabelle
France, Paris
Sorbonne Université
France, Paris
Hôpital Bichat-claude-bernard Ap-hp
Itoh, Hideki
Japan, Otsu
Shiga University of Medical Science
Berthet, Myriam
France, Paris
Sorbonne Université
Ohno, Seiko
Japan, Kyoto
Kyoto University
Fressart, Véronique
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Monti, Maria Cristina
Italy, Pavia
Università Degli Studi Di Pavia
Crocamo, Cristina
Italy, Pavia
Università Degli Studi Di Pavia
Pedrazzini, Matteo
Italy, Pavia
Fondazione Irccs Policlinico San Matteo
Dagradi, Federica
Italy, Pavia
Università Degli Studi Di Pavia
Italy, Pavia
Fondazione Irccs Policlinico San Matteo
Vicentini, Alessandro
Italy, Pavia
Università Degli Studi Di Pavia
Klug, Didier
France, Lille
Université de Lille
Brink, Paul A.
South Africa, Stellenbosch
Stellenbosch University
Goosen, Althea
South Africa, Stellenbosch
Stellenbosch University
Swan, Heikki
Finland, Helsinki
Helsingin Yliopisto
Toivonen, Lauri K.
Finland, Helsinki
Helsingin Yliopisto
Lahtinen, Annukka M.
Finland, Helsinki
Helsingin Yliopisto
Kontula, Kimmo K.
Finland, Helsinki
Helsingin Yliopisto
Shimizu, Wataru
Japan, Suita
National Cerebral and Cardiovascular Center
Horie, Minoru
Japan, Otsu
Shiga University of Medical Science
George, Alfred L.
United States, Nashville
Vanderbilt University
Trégouët, David Alexandre
France, Paris
Sorbonne Université
France, Paris
Inserm
Guicheney, Pascale
France, Paris
Sorbonne Université
Schwartz, Peter J.
Italy, Pavia
Università Degli Studi Di Pavia
Italy, Pavia
Fondazione Irccs Policlinico San Matteo
South Africa, Cape Town
University of Cape Town
Saudi Arabia, Riyadh
College of Medicine
Statistics
Citations: 71
Authors: 26
Affiliations: 16
Identifiers
Doi:
10.1161/CIRCGENETICS.113.000023
ISSN:
1942325X
e-ISSN:
19423268
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Noncommunicable Diseases
Study Design
Cohort Study
Case-Control Study